Growth failure in early childhood
Gene: CDKN1CComment on phenotypes: Previous phenotypes (overwritten): SRS/BWS;Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies;Beckwith-Wiedemann syndrome, 130650Created: 26 Mar 2024, 3:41 p.m. | Last Modified: 26 Mar 2024, 3:41 p.m.
Panel Version: 3.17
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that CDKN1C should be included on the panel. Therefore kept rating as Green.Created: 30 May 2019, 9:34 a.m.
This gene is part of a consensus list for SRS/SRS-like testing provided by Frederic Brioude. Suggested initial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: SRS/BWS.Created: 14 May 2019, 1:25 p.m.
Phenotypes
SRS/BWS
Phenotypes for gene: CDKN1C were changed from SRS/BWS; Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies; Beckwith-Wiedemann syndrome, 130650 to IMAGE syndrome, OMIM:614732
Source Expert list was added to CDKN1C. Added phenotypes SRS/BWS; Beckwith-Wiedemann syndrome, 130650 for gene: CDKN1C
gene: CDKN1C was added gene: CDKN1C was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Phenotypes for gene: CDKN1C were set to Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies